American Heart Month: Congenital heart disease
This is a great time of year to review these topics. Every 5 minutes in the United States, a baby is born with a birth defect. At the top of the list of birth defects are congenital heart defects (CHDs).
Demographic studies of congenital heart defects show an average of 1% of total births. With 12,000 births per year, more than 100 babies annually are born with a heart defect in Montana. About 25-30/year of these are considered critical congenital heart disease (CCHD), defined as requiring surgery or other intervention in the first year of life. VSD and ASD are the most common defects.
Prevention of CHD still requires a lot of research. It is ideal for families to be aware of any significant family history of heart defects and inform their provider. If either parent has a history of a VSD, then the child has a 5% chance of having CHD. Families with bicuspid aortic valves, aortic coarctations or other left sided heart defects should also be aware that these can be familial. Infants of obese and diabetic mothers and those who drink alcohol are at increased risk.
Detection and prenatal diagnosis of congenital heart defects is imperative, especially in MT due to the potential for significant travel for lifesaving surgery. Congenital heart disease may be suspected if there is a family history, a genetic syndrome identified, other congenital anomalies or an abnormal heart on the 20-week ultrasound anatomy scan. Good prenatal care with qualified OB/Perinatologist/CNM is VITAL! Many practitioners aren’t aware that a fetal echocardiogram can now be performed as early as 9 weeks gestation and the fetal heart can be seen well by 13 weeks gestation. This is important in cases of severe heart defects or life limiting syndromes. Fetal echocardiography is not always indicated, but can be vital in cases of suspected congenital heart disease.
If a heart defect is not detected in utero, the next opportunity for detection is in the first few days of life with the physical exam and the CCHD screen. Dysmorphic features, increased work of breathing, cyanosis, murmur and absent peripheral pulses can all indicate CCHD, but there may be no early signs. In 2011 the US DPHHS recommended that all newborns be screened for CCHD using pulse oximetry.
Montana DPHHS requires CCHD screening as part of prenatal exam, but some are missed. This is more likely if they are born out of a hospital or if they are discharged before 24 hours. CCHD screening can also happen and be lifesaving at the first primary care visit. The time of PDA closure can be unpredictable, so if at any time an infant appears blue or there is a history of cyanosis, a CCHD screen may be important.
To learn about the CCHD screen, go to https://www.cdc.gov/ncbddd/heartdefects/ or find the protocol on our website.
By Austine Siomos, MD, pediatric cardiologist at Montana Children's.
This article was originally published in MT Pediatric Updates - Provider Newsletter issue No.1 (Jan/Feb 2020).